Submissions for variant NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)

gnomAD frequency: 0.00014  dbSNP: rs143664472

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537196	SCV000658712	benign	LAMA2-related muscular dystrophy	2024-02-24	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001810461	SCV002060080	uncertain significance	Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23	2021-10-01	criteria provided, single submitter	clinical testing	NM_000426.3(LAMA2):c.542A>G(N181S) is a missense variant classified as a variant of uncertain significance in the context of muscular dystrophy, LAMA2-related. N181S has not been observed in cases with relevant disease. Functional assessments of this variant are not available in the literature. N181S has been observed in population frequency databases (gnomAD: AFR 0.05%). In summary, there is insufficient evidence to classify NM_000426.3(LAMA2):c.542A>G(N181S) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Revvity Omics, Revvity	RCV003133365	SCV003816365	uncertain significance	not provided	2022-06-30	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV003133365	SCV004223920	uncertain significance	not provided	2022-07-29	criteria provided, single submitter	clinical testing	BP4, PM2